Canonical Allele Identifier: CA1881751255

Gene: POMT1

Linked Data

• dbSNP Id: rs1949122955
• gnomAD v3: 9-131518158-CAG-C
• gnomAD v4: 9-131518158-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518163_131518164del , CM000671.2:g.131518163_131518164del	GRCh38
NC_000009.11:g.134393550_134393551del , CM000671.1:g.134393550_134393551del	GRCh37
NC_000009.10:g.133383371_133383372del	NCBI36
NG_008896.1:g.20262_20263del
NG_008896.2:g.20262_20263del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1111-282_1111-281del	ENSP00000343034.7:n.1111-282_1111-281del
ENST00000404875.7:n.1813-282_1813-281del
ENST00000423007.6:c.1330-282_1330-281del	ENSP00000404119.2:n.1330-282_1330-281del
ENST00000677295.2:c.*1617-282_*1617-281del	ENSP00000504346.2:n.*1617-282_*1617-281del
ENST00000678264.2:c.*1456-282_*1456-281del	ENSP00000503157.2:n.*1456-282_*1456-281del
ENST00000682070.1:n.1738-282_1738-281del
ENST00000682539.1:c.211-282_211-281del
ENST00000682813.1:n.1538-282_1538-281del
ENST00000683392.1:n.4020-282_4020-281del
ENST00000683712.1:n.1678-282_1678-281del
ENST00000683900.1:n.3173-282_3173-281del
ENST00000684062.1:n.1939-282_1939-281del
ENST00000684579.1:n.3119-282_3119-281del
ENST00000684679.1:n.500-282_500-281del
ENST00000341012.12:c.1111-282_1111-281del	ENSP00000343034.7:n.1111-282_1111-281del
ENST00000372220.5:c.142-282_142-281del	ENSP00000361294.5:n.142-282_142-281del
ENST00000372228.9:c.1339-282_1339-281del	ENSP00000361302.3:n.1339-282_1339-281del
ENST00000402686.8:c.1273-282_1273-281del MANE Select	ENSP00000385797.4:n.1273-282_1273-281del
ENST00000676640.1:c.1273-282_1273-281del	ENSP00000503281.1:n.1273-282_1273-281del
ENST00000676803.1:c.448-282_448-281del	ENSP00000503093.1:n.448-282_448-281del
ENST00000676835.1:c.*488-282_*488-281del	ENSP00000502911.1:n.*488-282_*488-281del
ENST00000677029.1:c.817-282_817-281del	ENSP00000502936.1:n.817-282_817-281del
ENST00000677099.1:c.*983-282_*983-281del	ENSP00000504553.1:n.*983-282_*983-281del
ENST00000677216.1:c.922-282_922-281del	ENSP00000503772.1:n.922-282_922-281del
ENST00000677221.1:n.107_108del
ENST00000677295.1:c.*650-282_*650-281del	ENSP00000504346.1:n.*650-282_*650-281del
ENST00000677444.1:c.1079-282_1079-281del
ENST00000677586.1:n.754-282_754-281del
ENST00000677626.1:c.922-282_922-281del	ENSP00000503552.1:n.922-282_922-281del
ENST00000677677.1:n.1233-282_1233-281del
ENST00000677853.1:c.*281-282_*281-281del	ENSP00000503488.1:n.*281-282_*281-281del
ENST00000677944.1:c.535-282_535-281del
ENST00000677983.1:n.171_172del
ENST00000678202.1:n.164_165del
ENST00000678264.1:c.*650-282_*650-281del	ENSP00000503157.1:n.*650-282_*650-281del
ENST00000678303.1:c.1183-282_1183-281del	ENSP00000503696.1:n.1183-282_1183-281del
ENST00000678366.1:c.*1522-282_*1522-281del	ENSP00000504353.1:n.*1522-282_*1522-281del
ENST00000678546.1:c.*1218-282_*1218-281del	ENSP00000503062.1:n.*1218-282_*1218-281del
ENST00000678548.1:c.*1345-282_*1345-281del	ENSP00000503934.1:n.*1345-282_*1345-281del
ENST00000678626.1:n.970-282_970-281del
ENST00000678733.1:c.354-282_354-281del
ENST00000678739.1:c.*1599-282_*1599-281del	ENSP00000503806.1:n.*1599-282_*1599-281del
ENST00000678795.1:n.360-282_360-281del
ENST00000678833.1:c.*720-282_*720-281del	ENSP00000503893.1:n.*720-282_*720-281del
ENST00000678942.1:c.453-282_453-281del	ENSP00000504690.1:n.453-282_453-281del
ENST00000679023.1:c.1111-282_1111-281del	ENSP00000503718.1:n.1111-282_1111-281del
ENST00000679076.1:c.892-282_892-281del
ENST00000679111.1:c.1273-282_1273-281del	ENSP00000504257.1:n.1273-282_1273-281del
ENST00000679189.1:c.922-282_922-281del	ENSP00000503356.1:n.922-282_922-281del
ENST00000341012.11:c.1111-282_1111-281del	ENSP00000343034.7:n.1111-282_1111-281del
ENST00000372228.7:c.1339-282_1339-281del	ENSP00000361302.3:n.1339-282_1339-281del
ENST00000402686.7:c.1273-282_1273-281del	ENSP00000385797.3:n.1273-282_1273-281del
ENST00000404875.6:c.922-282_922-281del	ENSP00000384531.2:n.922-282_922-281del
ENST00000423007.5:c.1273-282_1273-281del	ENSP00000404119.1:n.1273-282_1273-281del
ENST00000485278.5:n.1828-282_1828-281del
NM_001077365.1:c.1273-282_1273-281del	NP_001070833.1:n.1273-282_1273-281del
NM_001077366.1:c.1111-282_1111-281del	NP_001070834.1:n.1111-282_1111-281del
NM_001136113.1:c.1273-282_1273-281del	NP_001129585.1:n.1273-282_1273-281del
NM_001136114.1:c.922-282_922-281del	NP_001129586.1:n.922-282_922-281del
NM_007171.3:c.1339-282_1339-281del	NP_009102.3:n.1339-282_1339-281del
XM_005272156.1:c.1339-282_1339-281del	XP_005272213.1:n.1339-282_1339-281del
XM_005272158.1:c.1177-282_1177-281del	XP_005272215.1:n.1177-282_1177-281del
XM_005272159.1:c.988-282_988-281del	XP_005272216.1:n.988-282_988-281del
XM_005272162.1:c.142-282_142-281del	XP_005272219.1:n.142-282_142-281del
XM_006716932.1:c.988-282_988-281del	XP_006716995.1:n.988-282_988-281del
XM_011518140.1:c.1192-282_1192-281del	XP_011516442.1:n.1192-282_1192-281del
XM_011518141.1:c.1126-282_1126-281del	XP_011516443.1:n.1126-282_1126-281del
XM_011518142.1:c.1030-282_1030-281del	XP_011516444.1:n.1030-282_1030-281del
XM_011518143.1:c.1024-282_1024-281del	XP_011516445.1:n.1024-282_1024-281del
XM_011518144.1:c.1339-282_1339-281del	XP_011516446.1:n.1339-282_1339-281del
XM_011518145.1:c.883-282_883-281del	XP_011516447.1:n.883-282_883-281del
XM_011518146.1:c.1024-282_1024-281del	XP_011516448.1:n.1024-282_1024-281del
XM_011518147.1:c.20_21del	XP_011516449.1:p.Glu7GlyfsTer?
XR_929703.1:n.1515-282_1515-281del
NM_001353193.1:c.1339-282_1339-281del	NP_001340122.1:n.1339-282_1339-281del
NM_001353194.1:c.1111-282_1111-281del	NP_001340123.1:n.1111-282_1111-281del
NM_001353195.1:c.922-282_922-281del	NP_001340124.1:n.922-282_922-281del
NM_001353196.1:c.1183-282_1183-281del	NP_001340125.1:n.1183-282_1183-281del
NM_001353197.1:c.1177-282_1177-281del	NP_001340126.1:n.1177-282_1177-281del
NM_001353198.1:c.1177-282_1177-281del	NP_001340127.1:n.1177-282_1177-281del
NM_001353199.1:c.988-282_988-281del	NP_001340128.1:n.988-282_988-281del
NM_001353200.1:c.817-282_817-281del	NP_001340129.1:n.817-282_817-281del
NR_148391.1:n.1323-282_1323-281del
NR_148392.1:n.1541-282_1541-281del
NR_148393.1:n.1323-282_1323-281del
NR_148394.1:n.1216-282_1216-281del
NR_148395.1:n.1475-282_1475-281del
NR_148396.1:n.1109-282_1109-281del
NR_148397.1:n.1373-282_1373-281del
NR_148398.1:n.1328-282_1328-281del
NR_148399.1:n.1715-282_1715-281del
NR_148400.1:n.1314-282_1314-281del
XM_005272162.3:c.142-282_142-281del	XP_005272219.1:n.142-282_142-281del
XM_006716932.2:c.988-282_988-281del	XP_006716995.1:n.988-282_988-281del
XM_011518140.2:c.1192-282_1192-281del	XP_011516442.1:n.1192-282_1192-281del
XM_011518141.2:c.1126-282_1126-281del	XP_011516443.1:n.1126-282_1126-281del
XM_011518142.2:c.1030-282_1030-281del	XP_011516444.1:n.1030-282_1030-281del
XM_011518143.2:c.1024-282_1024-281del	XP_011516445.1:n.1024-282_1024-281del
XM_011518145.2:c.883-282_883-281del	XP_011516447.1:n.883-282_883-281del
XM_017014205.2:c.142-282_142-281del	XP_016869694.1:n.142-282_142-281del
XM_024447380.1:c.142-282_142-281del	XP_024303148.1:n.142-282_142-281del
XM_024447381.1:c.448-282_448-281del	XP_024303149.1:n.448-282_448-281del
XM_024447382.1:c.142-282_142-281del	XP_024303150.1:n.142-282_142-281del
XR_001746160.2:n.1443-282_1443-281del
XR_001746162.2:n.1509-282_1509-281del
XR_001746164.1:n.1226-282_1226-281del
XR_001746166.2:n.1660-282_1660-281del
XR_930402.2:n.279_280del
NM_001077365.2:c.1273-282_1273-281del MANE Select	NP_001070833.1:n.1273-282_1273-281del
NM_001077366.2:c.1111-282_1111-281del	NP_001070834.1:n.1111-282_1111-281del
NM_001136113.2:c.1273-282_1273-281del	NP_001129585.1:n.1273-282_1273-281del
NM_001136114.2:c.922-282_922-281del	NP_001129586.1:n.922-282_922-281del
NM_001353193.2:c.1339-282_1339-281del	NP_001340122.2:n.1339-282_1339-281del
NM_001353194.2:c.1111-282_1111-281del	NP_001340123.1:n.1111-282_1111-281del
NM_001353195.2:c.922-282_922-281del	NP_001340124.1:n.922-282_922-281del
NM_001353196.2:c.1183-282_1183-281del	NP_001340125.1:n.1183-282_1183-281del
NM_001353197.2:c.1177-282_1177-281del	NP_001340126.2:n.1177-282_1177-281del
NM_001353198.2:c.1177-282_1177-281del	NP_001340127.2:n.1177-282_1177-281del
NM_001353199.2:c.988-282_988-281del	NP_001340128.2:n.988-282_988-281del
NM_001353200.2:c.817-282_817-281del	NP_001340129.1:n.817-282_817-281del
NM_001374689.1:c.1261-282_1261-281del	NP_001361618.1:n.1261-282_1261-281del
NM_001374690.1:c.1273-282_1273-281del	NP_001361619.1:n.1273-282_1273-281del
NM_001374691.1:c.922-282_922-281del	NP_001361620.1:n.922-282_922-281del
NM_001374692.1:c.922-282_922-281del	NP_001361621.1:n.922-282_922-281del
NM_001374693.1:c.922-282_922-281del	NP_001361622.1:n.922-282_922-281del
NM_001374695.1:c.883-282_883-281del	NP_001361624.1:n.883-282_883-281del
NM_007171.4:c.1339-282_1339-281del	NP_009102.4:n.1339-282_1339-281del
NR_148391.2:n.1307-282_1307-281del
NR_148392.2:n.1525-282_1525-281del
NR_148393.2:n.1307-282_1307-281del
NR_148394.2:n.1200-282_1200-281del
NR_148395.2:n.1459-282_1459-281del
NR_148396.2:n.1093-282_1093-281del
NR_148397.2:n.1357-282_1357-281del
NR_148398.2:n.1312-282_1312-281del
NR_148399.2:n.1699-282_1699-281del
NR_148400.2:n.1298-282_1298-281del